Mutation

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MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

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Keywords: Mycobacterium tuberculosis, Antibiotic resistance, Mutation, Sequencing.

Mutation analysis for detection of drug resistance in mycobacterium tuberculosis isolates from Khyber Pakhtunkhwa, Pakistan

Yet, the molecular features of the disease have become of interest since 2005 following the identification of the JAK2V617F mutation.

Effects of mutational combinations on philadelphia-negative myeloproliferative neoplasms

No mutation was identified in GPR54 gene, while two mutations in GNRHR gene were observed in one sporadic case of isolated HH.

A Novel Mutation Ser34Phe in GNRHR causes Hypogonadotropic Hypogonadism during Pubertal Development in Boys

Notably, in 13 patients in whom only one pathogenic mutation was initially found by Sanger sequencing or NGS, 3 were further identified to carry exon deletions by MLPA.

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

FDA approves first blood test to detect gene mutation associated with NSCLC.

FDA approves first blood test to detect gene mutation associated with NSCLC

The mutation would only be visible if every cell has the same mutation.

Could hidden genetic mutations undercut stem cell therapies?

The myRisk Hereditary Cancer test improved the identification of cancer-causing mutations in genes other than BRCA1 or BRCA2 by 46% and detected 43% more women with a deleterious mutation.

Myriad Genetics' myRisk Hereditary Cancer test improves by 46% detection of cancer-causing mutations

The scientists said that characterizing those additional mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene will not only bring certainty to families about a CF diagnosis or carrier status, but will also accelerate the design process for new drugs tailored to a particular mutation.

Cure for cystic fibrosis comes closer to reality

Using peripheral blood samples, the presence of MPL W515L/K mutations and JAK-2 V617F mutation were analyzed by real-time polymerase chain reaction.

MPL W515L/K mutations in chronic myeloproliferative neoplasms / Kronik Miyeloproliferatif Neoplazmiarda MPL W515l/K Mutasyonlarl

Sequencing quality assessment and mutation detection were performed as a semi-automated process using Mutation Surveyor[TM], followed by direct examination of all sequence tracings.

Actions and consequences: characterization of a deletion in the CFTR gene that encompasses a splice site

Researchers have discovered that women who do not have a BRCA1 or BRCA2 gene mutation but have a female first-degree relative (mother, sister, or daughter) with a BRCA mutation do not have an increased risk of breast cancer compared to women with no personal or familial mutations.

Women with no BRCA mutation but BRCA in their families are not at increased breast cancer risk

These results support the standard clinical practice of advising noncarriers that they do not have any increase in breast cancer risk attributable to the family-specific BRCA mutation and, in the absence of other strong risk factors, should follow general population guidelines for breast cancer screening," said Dr.